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86268005: Achondroplasia (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)\Achondroplasia

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)\Achondroplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Achondroplasia	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Achondroplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Achondroplasia	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Achondroplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Achondroplasia	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Achondroplasia	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	true	Inferred relationship	Some	2
Achondroplasia	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	2
Achondroplasia	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Achondroplasia	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Achondroplasia	est un(e) (attribut)	Chondrodysplasia	true	Inferred relationship	Some
Achondroplasia	localisation d'une constatation (attribut)	Structure of epiphysis	true	Inferred relationship	Some	2
Achondroplasia	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Achondroplasia	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	1
Achondroplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Achondroplasia	morphologie associée (attribut)	modification de la croissance	false	Inferred relationship	Some	1
Achondroplasia	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Achondroplasia	est un(e) (attribut)	Disorder of epiphysis	true	Inferred relationship	Some
Achondroplasia	est un(e) (attribut)	True dwarfism	false	Inferred relationship	Some
Achondroplasia	est un(e) (attribut)	Defects of the tubular (and flat) bones and/or axial skeleton	false	Inferred relationship	Some
Achondroplasia	est un(e) (attribut)	achondrogenèse (trouble)	true	Inferred relationship	Some
Achondroplasia	est un(e) (attribut)	insuffisance staturale	false	Inferred relationship	Some
Achondroplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Achondroplasia	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Achondroplasia	localisation d'une constatation (attribut)	Structure of epiphysis	false	Inferred relationship	Some	1
Achondroplasia	morphologie associée (attribut)	modification de la croissance	false	Inferred relationship	Some	1
Achondroplasia	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Achondroplasia	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	3
Achondroplasia	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	3
Achondroplasia	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Achondroplasia	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Achondroplasia	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	5
Achondroplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
Achondroplasia	morphologie associée (attribut)	Congenital hypoplasia	false	Inferred relationship	Some	5
Achondroplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	4
Achondroplasia	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	4
Achondroplasia	morphologie associée (attribut)	modification de la croissance	false	Inferred relationship	Some	3
Achondroplasia	localisation d'une constatation (attribut)	Structure of epiphysis	false	Inferred relationship	Some	3
Achondroplasia	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Achondroplasia	localisation d'une constatation (attribut)	Both upper extremities	false	Inferred relationship	Some
Achondroplasia	localisation d'une constatation (attribut)	Structure of epiphysis	false	Inferred relationship	Some	1
Achondroplasia	localisation d'une constatation (attribut)	Both lower extremities (body structure)	false	Inferred relationship	Some
Achondroplasia	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	est un(e) (attribut)	False	Achondroplasia	Inferred relationship	Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)	est un(e) (attribut)	True	Achondroplasia	Inferred relationship	Some
Severe achondrolasia with developmental delay and acanthosis nigricans (disorder)	est un(e) (attribut)	False	Achondroplasia	Inferred relationship	Some
Family history of achondroplasia (situation)	constatation associée (attribut)	True	Achondroplasia	Inferred relationship	Some	1

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
143065010	Achondroplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
143066011	Chondrodystrophia fetalis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
143067019	Achondroplastic dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
143069016	Osteosclerosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
143070015	Congenital osteosclerosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
477231000241117	achondroplasie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
507012010	Achondroplastic dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
828495014	Achondroplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
970141000172113	achondroplasie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)